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Combination of four features of SLC29A3 spectrum disorder in a child: A case report.
- Source :
-
Pediatric Dermatology . Sep2024, Vol. 41 Issue 5, p888-892. 5p. - Publication Year :
- 2024
-
Abstract
- SLC29A3 spectrum disorder, also known as histiocytosis‐lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi‐systemic manifestations that can be mistaken for other conditions. Herein, we report a 9‐year‐old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder. [ABSTRACT FROM AUTHOR]
- Subjects :
- *SHORT stature
*SYMPTOMS
*HEARING disorders
*HYPERPIGMENTATION
*SYNDROMES
Subjects
Details
- Language :
- English
- ISSN :
- 07368046
- Volume :
- 41
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Pediatric Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 179945973
- Full Text :
- https://doi.org/10.1111/pde.15619